The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport
Open accessAbstract
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous developmental disorder whose molecular basis is largely unknown. Here, we show that mutations in the Caenorhabditis elegans bbs-7 and bbs-8 genes cause structural and functional defects in cilia. C. elegans BBS proteins localize predominantly at the base of cilia, and like proteins involved in intraflagellar transport (IFT), a process necessary for cilia biogenesis and maintenance, move bidirectionally along the ciliary axoneme. Importantly, we demonstrate that BBS-7 and BBS-8 are required for the normal localization/motility of the IFT proteins OSM-5/Polaris and CHE-11, and to a notably lesser extent, CHE-2. We propose that BBS proteins play important, selective roles in the assembly and/or function of IFT particle components. Our findings also suggest that some of the cardinal and secondary symptoms of BBS, such as obesity, diabetes, cardiomyopathy, and learning defects may result from cilia dysfunction.
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Pazour, G. J., Dickert, B. L., Vucica, Y., Seeley, E. S., Rosenbaum, J. L., Witman, G. B., & Cole, D. G. (2000) · The Journal of Cell Biology · doi:10.1083/jcb.151.3.709 · Cited by 1,147
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Cited by
Hartong, D. T., Berson, E. L., & Dryja, T. P. (2006) · The Lancet · doi:10.1016/s0140-6736(06)69740-7 · Cited by 2,924
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Merchant, S. S., Prochnik, S. E., Vallon, O., Harris, E. H., Karpowicz, S. J., Witman, G. B., Terry, A., Salamov, A., Fritz-Laylin, L. K., Maréchal-Drouard, L., et al. (2007) · Science · doi:10.1126/science.1143609 · Cited by 2,691
Nachury, M. V., Loktev, A. V., Zhang, Q., Westlake, C. J., Peränen, J., Merdes, A., Slusarski, D. C., Scheller, R. H., Bazan, J. F., Sheffield, V. C., et al. (2007) · Cell · doi:10.1016/j.cell.2007.03.053 · Cited by 1,384
The Ciliopathies: An Emerging Class of Human Genetic Disorders
Badano, J. L., Mitsuma, N., Beales, P. L., & Katsanis, N. (2006) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.7.080505.115610 · Cited by 1,144
Self-citationThe Human Obesity Gene Map: The 2005 Update
Rankinen, T., Zuberi, A., Chagnon, Y. C., Weisnagel, S. J., Argyropoulos, G., Walts, B., Pérusse, L., & Bouchard, C. (2006) · Obesity · doi:10.1038/oby.2006.71 · Cited by 1,119
Metadata
- Authors
- Blacque, O. E., Reardon, M. J., Li, C., McCarthy, J., Mahjoub, M. R., Ansley, S. J., Badano, J. L., Mah, A. K., Beales, P. L., Davidson, W. S., Johnsen, R. C., Audeh, M., Plasterk, R. H. A., Baillie, D. L., Katsanis, N., Quarmby, L. M., Wicks, S. R., & Leroux, M. R.
- Venue
- Genes & Development
- Publisher
- Cold Spring Harbor Laboratory
- Published
- 2004-07-01
- Volume
- 18
- Issue
- 13
- Pages
- 1630-1642
- ISSN
- 0890-9369 (ISSN-L)
- 1549-5477
- OpenAlex
- W2143175476
- Cited by
- 347
- References
- 2
- Type
- posted content
- Language
- en
- Open access
- diamond
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- The paper
- Blacque, O. E., Reardon, M. J., Li, C., McCarthy, J., Mahjoub, M. R., Ansley, S. J., Badano, J. L., Mah, A. K., Beales, P. L., Davidson, W. S., Johnsen, R. C., Audeh, M., Plasterk, R. H. A., Baillie, D. L., Katsanis, N., Quarmby, L. M., Wicks, S. R., & Leroux, M. R. (2004). Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport. Genes & Development. https://doi.org/10.1101/gad.1194004
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
